ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037484
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
125436
ClinVar RCV Id:
RCV000111461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg169Cys
CA267693
NM_001354304.2:c.505C>T